AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (ADRP) - LOCALIZATION OF AN ADRP GENE TO THE LONG ARM OF CHROMOSOME-3
AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (ADRP) - LOCALIZATION OF AN ADRP GENE TO THE LONG ARM OF CHROMOSOME-3
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DOI：
10.1016/0888-7543(89)90031-1
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发表时间：
1989-10-01
期刊：
影响因子：
4.4
通讯作者：
HUMPHRIES, P
中科院分区：
文献类型：
--
作者：
MCWILLIAM, P;FARRAR, GJ;HUMPHRIES, P
爱尔兰血统的一个大家系的成员提出了早发性I型常染色体显性视网膜色素变性（ADRP）已被分型为D3S47（C17），从3号染色体长臂的多态性标记。ADRP基因与D3S47基因紧密连锁，在0.00重组时的lod值最大为14.7，因此将ADRP基因（RP 1）定位于3q。
Members of a large pedigree of Irish origin presenting with early onset Type I autosomal dominant retinitis pigmentosa (ADRP) have been typed for D3S47 (C17), a polymorphic marker from the long arm of chromosome 3. Significant, tight linkage of ADRP to D3S47, with a lod score of 14.7 maximizing at 0.00 recombination, has been obtained, hence localizing the ADRP gene (RP1) segregating in this pedigree to 3q.